2016年至2022年中国南方20种罕见神经系统疾病的发病率和健康负担：一项基于医院的观察性研究。

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

作者信息

Li Jingjing, Tang Shujin, Li Jiaoxing, Huang Xin, Liu Yu, Zeng Jinsheng, Fan Yuhua

机构信息

Department of Neurology, The First Affiliated Hospital, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Sun Yat-Sen university, No. 58 Zhongshan Road 2, Guangzhou, 510080, China.

School of Public Health and Management, Guangzhou University of Chinese Medicine, Guangzhou, China.

出版信息

Orphanet J Rare Dis. 2025 Apr 8;20(1):163. doi: 10.1186/s13023-025-03704-5.

DOI:10.1186/s13023-025-03704-5

PMID:40200352

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11977943/

Abstract

BACKGROUND

Rare neurological diseases (RNDs) result in severe health burdens worldwide. Data from China are limited. We aimed to investigate the health burden of 20 RNDs in Guangdong Province (GD), which contains two-thirds of the population of South China.

METHODS

The hospitalization data of 20 RNDs were described using hospital-based front sheet data from 3,037 hospitals of GD from 2016 to 2022. The 20 RNDs included amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth Disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, congenital myotonia, congenital myasthenic syndrome, Dravet syndrome, Fabry disease, hereditary spastic paraplegia, Huntington disease, Leber hereditary optic neuropathy, mitochondrial encephalopathy (ME), multi-focal motor neuropathy, myotonic dystrophy, primary hereditary dystonia, progressive muscular dystrophy (PMD), spinal and bulbar muscular atrophy, spinal muscular atrophy (SMA), spinocerebellar ataxia, Wilson disease (WD) and X-linked adrenoleukodystrophy. Age were presented as mean and standard deviation while length of hospital stay as median and interquartile range (25th and 75th percentiles). The other variables were described as number and percentage. The data were analyzed by Joinpoint regression.

RESULTS

There were 9,351 cases, including 330 ICU and 155 death cases. The average age was 33.7 ± 22.0 y, and 63.8% of patients were male. From 2016 to 2022, the number of RND (and juvenile RND) cases were 1034 (184), 1174 (293), 1443 (374), 1422 (320), 1331 (337), 1432 (409) to 1515 (515). ICU (and juvenile ICU) cases rose from 28 (3), 34 (6), 24 (4), 38 (11), 46 (13), 54 (24) to 106 (56). Joinpoint regression showed significant upward trend in percentages of juvenile and juvenile ICU cases (APC = 8.13, P< 0.05; APC = 28.42, P< 0.05). The fop five RNDs were WD, ASL, PMD, ME, and SMA, which accounted for 79.7% of all, 99.1% of ICU, and 94.8% of death cases.

CONCLUSIONS

We demonstrated that the increase in health burden of RNDs was mainly evident in juveniles in South China from 2016 to 2022. The top 5 RNDs accounted for majority of the critical patients.

摘要

背景

罕见神经疾病（RNDs）在全球范围内造成了严重的健康负担。来自中国的数据有限。我们旨在调查广东省（GD）20种RNDs的健康负担，广东省人口占中国南方的三分之二。

方法

利用2016年至2022年广东省3037家医院基于医院病历首页的数据，描述了20种RNDs的住院数据。这20种RNDs包括肌萎缩侧索硬化症（ALS）、夏科-马里-图斯病、伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病、先天性肌强直、先天性肌无力综合征、德雷维特综合征、法布里病、遗传性痉挛性截瘫、亨廷顿病、莱伯遗传性视神经病变、线粒体脑病（ME）、多灶性运动神经病、强直性肌营养不良、原发性遗传性肌张力障碍、进行性肌营养不良（PMD）、脊髓和延髓性肌萎缩、脊髓性肌萎缩（SMA）、脊髓小脑共济失调、威尔逊病（WD）和X连锁肾上腺脑白质营养不良。年龄以均值和标准差表示，住院时间以中位数和四分位数间距（第25和第75百分位数）表示。其他变量以数量和百分比描述。数据采用Joinpoint回归分析。

结果

共有9351例病例，包括330例重症监护病房（ICU）病例和155例死亡病例。平均年龄为33.7±22.0岁，63.8%的患者为男性。2016年至2022年，RND（及青少年RND）病例数分别为1034（184）、1174（293）、1443（374）、1422（320）、1331（337）、1432（409）至1515（515）。ICU（及青少年ICU）病例数从28（3）、34（6）、24（4）、38（11）、46（13）、54（24）增至106（56）。Joinpoint回归显示青少年及青少年ICU病例百分比呈显著上升趋势（年度百分比变化率[APC]=8.13，P<0.05；APC=28.42，P<0.05）。前五种RNDs为WD、ASL、PMD、ME和SMA，占所有病例的79.7%、ICU病例的99.1%和死亡病例的94.8%。